Actions and consequences: characterization of a deletion in the CFTR gene that encompasses a splice site

Grand Rounds

Carlos Jose Suarez¹  Iris Schrijver¹  Terry Boyle¹  Tsoyu Chiang¹ 

[1] $$

关键词: Cystic fibrosis;    indel;    splice mutation;    frameshift;   

DOI  :  10.1102/1470-5206.2012.0009

学科分类：传染病学

来源: e-MED Ltd.

【 摘 要 】

We report an interesting complex CFTR gene mutation in a patient with cystic fibrosis. It is an insertion combined with a deletion that spans an exonic splice site, causes a frameshift and could affect splicing. This rare mutation poses a challenge to provide correct nomenclature and to interpret its clinical significance.

【 授权许可】

Unknown